Overview

Congenital hypothyroidism, previously known as cretinism, is a severe deficiency

of thyroid hormone in newborns. It causes impaired neurological function, stunted
growth, and physical deformities. The condition may occur because of a problem
with the baby’s thyroid gland, or a lack of iodine in the mother’s body during
pregnancy.

A baby’s body needs iodine to make thyroid hormones. These hormones are
essential for healthy growth, brain, and nervous system development.

The introduction of iodized salt in the early 20th century made congenital

hypothyroidism very rare in the United States and the rest of the Western world.
However, severe iodine deficiency is still common in developing nations.
Signs of cretinism or congenital hypothyroidism in a newborn include:
• lack of weight gain
• stunted growth
• fatigue, lethargy
• poor feeding
• thickened facial features
• abnormal bone growth
• mental retardation
• very little crying
• excessive sleep
• constipation
• yellowing of the skin and whites of the eyes (jaundice)
• floppiness, low muscle tone
• hoarse voice
• unusually large tongue
• swelling near the navel (umbilical hernia)
• cool, dry skin
• pale skin
• swelling of the skin (myxedema)
• swelling in the neck from an enlarged thyroid gland (goiter)
Congenital hypothyroidism in newborns can be caused by:
• a missing, poorly formed, or abnormally small thyroid gland
• a genetic defect that affects thyroid hormone production
• too little iodine in the mother’s diet during pregnancy
• radioactive iodine or antithyroid treatment for thyroid cancer
during pregnancy
• use of medicines that disrupt thyroid hormone production — such
as antithyroid drugs, sulfonamides, or lithium — during
pregnancy
Congenital adrenal hyperplasia (CAH) refers to a group of
genetic disorders that affect the adrenal glands, a pair of
walnut-sized organs above the kidneys. The adrenal glands
produce important hormones, including:

Cortisol, which regulates the body's response to illness or

stress, Mineralocorticoids, such as aldosterone, which
regulate sodium and potassium levels
Androgens, such as testosterone, which are male sex
hormones
There are two major types of congenital adrenal
hyperplasia:
Classic CAH.
This form is rarer and is usually detected in infancy.
Approximately two-thirds of people who have classic CAH
have what's known as the salt-losing form, while one-third
have what's referred to as the simple-virilizing form.

Nonclassic CAH.
This form is milder and more common, and may not become
evident until childhood or early adulthood.
Classic CAH
Female infants who have classic CAH may have a condition known as
ambiguous genitalia, in which the clitoris is enlarged or the genitals look
more like those of a male child. Male infants who have classic CAH have
normal appearing genitals. Both male and female infants can be
seriously affected by a lack of cortisol, aldosterone or both. This is
known as an adrenal crisis, and it can be life-threatening.

The salt-losing form and simple-virilizing form of classic CAH cause

children's bodies to produce an insufficient amount of cortisol. These
children can have problems maintaining normal blood pressure, normal
blood sugar and energy levels, and are more vulnerable to stress. An
excess of the male sex hormones can result in short height and early
puberty for both boys and girls.
Nonclassic CAH
Often there are no symptoms of nonclassic CAH when a
baby is born. The condition is not identified on routine
infant blood screening and usually becomes evident in late
childhood or early adulthood. Cortisol may be the only
hormone that's deficient.

Teenage and adult females who have nonclassic CAH may

have normal appearing genitals at birth, but later in life,
they may experience:

Irregular or absent menstrual periods

Masculine characteristics such as facial hair, excessive body
hair and a deepening voice
Severe acne
In both females and males, signs of nonclassic CAH
may also include:
 Early appearance of pubic hair
 Rapid growth during childhood, an advanced bone
age and shorter predicted final height
Causes
Autosomal recessive inheritance pattern
Autosomal recessive inheritance pattern
The most common cause of CAH is the lack of the enzyme
known as 21-hydroxylase. CAH may sometimes be called 21-
hydroxylase deficiency. There are other much rarer enzyme
deficiencies that also cause CAH.

Children who have the condition have two parents who

either have CAH themselves or who are both carriers of the
genetic mutation that causes the condition. This is known as
the autosomal recessive inheritance pattern.
GALACTOSEMIA
What Is Galactosemia?
Breast milk is full of good things that babies need -- key nutrients,
hormones, and antibodies that protect them from disease and keep them
healthy.
But some babies are born with galactosemia. It’s a rare metabolic
condition that prevents them from processing galactose (one of the
sugars in breast milk and formula) and turning it into energy. The
disorder can cause many problems for newborns and can be life-
threatening if left untreated.
It’s easy to test for galactosemia. It’s also simple to treat once it’s
diagnosed. And children who have it can live normal lives.
There are three main types of galactosemia:
 Classic (type I)
 Galactokinase deficiency (type II)
 Galactose epimerase deficiency (type III)

Type I occurs in about 1 in every 30,000 to 60,000 people.

Type II and type III are less common.
As a parent or potential parent, you and your partner can be
genetically screened for galactosemia. If you’re a carrier, it
doesn’t mean you have to avoid galactose. But it means you
can pass galactosemia along to your children.
Symptoms
If your newborn has classic galactosemia, they’ll appear normal at birth.
Symptoms start to show up within a few days after they begin to drink
breast milk or formula with lactose -- the milk sugar that contains
galactose.

Your baby first loses their appetite and starts vomiting. Then they get
jaundice, a yellowing of the skin and the whites of their eyes. Diarrhea is
common, too. The disease leads to severe weight loss and your baby
struggles to grow and thrive.

Without treatment, over time your child may develop cataracts and can
be susceptible to infections. They may have liver damage and kidney
problems. Their brain may not mature well. That can cause
developmental disabilities. Some children have issues with their motor
skills and muscles. For girls, it can cause their ovaries to stop working.
Most with this condition can’t have children.
Testing and Treatment

Every baby born at a U.S. hospital is given what’s called a

newborn screening. A blood sample is taken from a heel
stick (a tiny cut in the baby’s foot) and it is tested for
several conditions. Galactosemia is one of them.

If your baby shows signs of the illness, your doctor will

suggest a follow-up test to confirm. This test will include
both a blood and urine sample.

If your child has galactosemia, your doctor will work with

you to plan a diet. Lactose and galactose are taken out of
their diet. Instead, they’re given soy-based formula and
must avoid milk or milk byproducts.
Though a person with galactosemia will never be able to process this type
of sugar, they can live normal lives if the disease is caught early enough.

Along with eliminating dairy, your doctor may recommend cutting out some
fruits, vegetables, and candies that contain galactose. In addition, your
child may need to take vitamin and mineral supplements such as calcium,
vitamin C, vitamin D, and vitamin K.

Some babies have a form of the condition called Duarte galactosemia (DG),
which is milder than the classic form (type I). Babies with DG have some
issues processing galactose, but it’s not as severe as type I. Your baby may
not need any special care, though your doctor may still recommend taking
galactose and lactose out of their diet.
Babies with type II or type III also will have fewer issues than
babies with classic galactosemia. However, they still can
develop cataracts, kidney and liver issues, and have delayed
growth. Girls with galactosemia may require hormone
treatment when they reach puberty.

It’s important that parents of a child with galactosemia work

with a health care team to find ways to help them live with
the condition and its effects on their daily life.
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited
disorder that causes an amino acid called phenylalanine to build up in the body.
PKU is caused by a defect in the gene that helps create the enzyme needed to
break down phenylalanine.

Without the enzyme necessary to process phenylalanine, a dangerous buildup can

develop when a person with PKU eats foods that contain protein or eats aspartame,
an artificial sweetener. This can eventually lead to serious health problems.

For the rest of their lives, people with PKU — babies, children and adults — need to
follow a diet that limits phenylalanine, which is found mostly in foods that contain
protein.

Babies in the United States and many other countries are screened for PKU soon
after birth. Recognizing PKU right away can help prevent major health problems .
Untreated PKU can lead to:
Irreversible brain damage and marked intellectual disability
beginning within the first few months of life
Neurological problems such as seizures and tremors
Behavioral, emotional and social problems in older children and
adults
Major health and developmental problems
Symptoms
Newborns with PKU initially don't have any symptoms. However, without
treatment, babies usually develop signs of PKU within a few months.
PKU signs and symptoms can be mild or severe and may include:
A musty odor in the breath, skin or urine, caused by too much
phenylalanine in the body
Neurological problems that may include seizures
Skin rashes (eczema)
Fair skin and blue eyes, because phenylalanine can't transform into
melanin — the pigment responsible for hair and skin tone
Abnormally small head (microcephaly)
Hyperactivity
Intellectual disability
Delayed development
Behavioral, emotional and social problems
 Hyperactivity
 Intellectual disability
 Delayed development
 Behavioral, emotional and social problems
 Psychiatric disorders
Babies born to mothers with high phenylalanine levels don't often inherit
PKU. But they can have serious consequences if the level of
phenylalanine is high in the mother's blood during pregnancy.
Complications at birth may include:

Low birth weight

Delayed development
Facial abnormalities
Abnormally small head
Heart defects and other heart problems
Intellectual disability
Behavioral problems
Causes
Autosomal recessive inheritance pattern
Autosomal recessive inheritance pattern
A defective gene (genetic mutation) causes PKU, which can be
mild, moderate or severe. In a person with PKU, this
defective gene causes a lack of or deficiency of the enzyme
that's needed to process phenylalanine, an amino acid.
A dangerous buildup of phenylalanine can develop when a
person with PKU eats protein-rich foods, such as milk, cheese,
nuts or meat, and even grains such as bread and pasta, or
eats aspartame, an artificial sweetener. This buildup of
phenylalanine results in damage to nerve cells in the brain.
Risk factors for inheriting PKU include:

Having both parents with a defective gene that causes PKU. Two parents must
pass along a copy of the defective gene for their child to develop the condition.
Being of certain ethnic descent. The gene defect that causes PKU varies by
ethnic groups and it's less common in African-Americans than in other ethnic
groups.
 Untreated PKU can lead to:

 Irreversible brain damage and marked intellectual disability beginning within the first few
months of life
 Neurological problems such as seizures and tremors
 Behavioral, emotional and social problems in older children and adults
 Major health and developmental problems
 Prevention
 If you have PKU and are considering getting pregnant:

 Follow a low-phenylalanine diet. Women with PKU can prevent birth defects by sticking to or
returning to a low-phenylalanine diet before becoming pregnant. If you have PKU, talk to your
doctor before you start trying to conceive.
 Consider genetic counseling. If you have PKU, a close relative with PKU or a child with PKU, you
may also benefit from genetic counseling before becoming pregnant. A doctor who specializes in
medical genetics (geneticist) can help you better understand how PKU is passed through your
family tree. He or she can also help determine your risk of having a child with PKU and assist with
family planning.
What is G6PD deficiency?

G6PD deficiency is a genetic abnormality that results in an

inadequate amount of glucose-6-phosphate dehydrogenase
(G6PD) in the blood. This is a very important enzyme (or
protein) that regulates various biochemical reactions in the
body.

G6PD is also responsible for keeping red blood cells healthy so

they can function properly and live a normal life span. Without
enough of it, red blood cells break down prematurely. This
early destruction of red blood cells is known as hemolysis, and
it can eventually lead to hemolytic anemia .
Hemolytic anemia develops when red blood cells are destroyed faster
than the body can replace them, resulting in reduced oxygen flow to the
organs and tissues. This can cause fatigue, yellowing of the skin and
eyes, and shortness of breath.

In people with G6PD deficiency, hemolytic anemia can occur after eating
fava beans or certain legumes. It may also be triggered by infections or
by certain drugs, such as:
antimalarials, a type of medication used to prevent and treat malaria
sulfonamides, a medication used for treating various infections
aspirin, a drug used for relieving fever, pain, and swelling
some nonsteroidal anti-inflammatory medications (NSAIDs)
Symptoms of G6PD deficiency can include:

rapid heart rate

shortness of breath
urine that is dark or yellow-orange
fever
fatigue
dizziness
paleness
jaundice, or yellowing of the skin and whites of the eyes
What causes G6PD deficiency?
G6PD deficiency is a genetic condition that is passed along
from one or both parents to their child. The defective gene
that causes this deficiency is on the X chromosome, which is
one of the two sex chromosomes. Men have only one X
chromosome, while women have two X chromosomes. In
males, one altered copy of the gene is enough to cause G6PD
deficiency.

In females, however, a mutation would have to be present in

both copies of the gene. Since it’s less likely for females to
have two altered copies of this gene, males are affected by
G6PD deficiency much more frequently than females.
Antibiotics
People with G6PD deficiency can tolerate most antibiotics
but should be aware of a select few that can initiate
significant red blood cell breakdown leading to anemia.
Antibiotics referred to as "sulfa" drugs should be avoided.
The "quinolone" antibiotics should also be avoided.
Other antibiotics that should be avoided include
nitrofurantoin and dapsone. Fortunately, there are many
antibiotics that people with G6PD deficiency can take safely.
Malaria Medications
Primaquine, a medication used to treat or prevent malaria, can
trigger hemolytic crises in people with G6PD deficiency.2 Because
of this possible complication, it is recommended that people be
tested for G6PD deficiency prior to taking primaquine. This
includes breastfeeding infants whose mothers take primaquine.

Cancer Treatment Medications

Rasburicase is a medication used to treat tumor lysis syndrome, a
medical complication of hematologic cancers like leukemia. It
should not be used in people with G6PD deficiency. Because of
this risk, it is recommended that people be tested prior to
receiving rasburicase.
Aspirin
Aspirin, commonly used to treat pain or
inflammation, should be avoided.4
Some people take aspirin daily as part of
their treatment regimen.
When avoiding aspirin, it is important to
remember that it is found in many over-the-
counter medications like Anacin, Bufferin,
Ecotrin, Excedrin.
Mothballs
Mothballs can contain a chemical known as naphthalene which can
trigger hemolysis in people with G6PD deficiency. Naphthalene can also
be found in fumigants, particularly those used to keep snakes away.

Naphthalene is a vapor given off by these products, so exposure may

come from inhaling the vapor or ingesting them.2

Henna
There are case reports published indicating henna (used for temporary
tattoos or hair dye) has triggered hemolytic crises in people with G6PD
deficiency. Newborns under the age of 2 months appear to be more
susceptible to this reaction.5
Fava Beans
G6PD deficiency, and particularly the most severe forms, is
also called favism. This is because the ingestion of fava
beans (also known as broad beans) can trigger hemolytic
attacks in patients with G6PD deficiency.2

Some suggest that all legumes (such as peas, lentils, or

peanuts) be avoided, but whether or not this is actually
needed is unknown.